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Novel FANCI mutations in Fanconi anemia with VACTERL association.

ABSTRACT: Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in FANCI are a rare cause of FA. We identified FANCI mutations by next generation sequencing in three patients in our FA cohort among several whose mutated gene was unknown. Four of the six mutations are novel and all mutations are likely deleterious to protein function. There are now 16 reported cases of FA due to FANCI of whom 7 have at least 3 features of the VACTERL association (44%). This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized.

SUBMITTER: Savage SA

PROVIDER: S-EPMC7158112 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Novel FANCI mutations in Fanconi anemia with VACTERL association.

Savage Sharon A SA Ballew Bari J BJ Giri Neelam N Chandrasekharappa Settara C SC Ameziane Najim N de Winter Johan J Alter Blanche P BP

American journal of medical genetics. Part A 20151121 2

Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in FANCI are a rare cause of FA. We identified FANCI mutations by next generation sequencing in three patients in our FA cohort among several whose mutated gene was unknown. Four of the six mutations are novel and all mutations are likely deleterious to protein function. There are now 16 report ...[more]

PMID: 26590883

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Fanconi anemia proteins FANCD2 and FANCI exhibit different DNA damage responses during S-phase.

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Histone chaperone activity of Fanconi anemia proteins, FANCD2 and FANCI, is required for DNA crosslink repair.

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